Have questions? Visit https://www.reddit.com/r/SNPedia

rs281874719

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281874719(C;T)
Make rs281874719(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668414
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874719
ClinGenrs281874719
ebirs281874719
HLIrs281874719
Exacrs281874719
Varsomers281874719
Maprs281874719
PheGenIrs281874719
hapmaprs281874719
1000 genomesrs281874719
hgdprs281874719
ensemblrs281874719
gopubmedrs281874719
geneviewrs281874719
scholarrs281874719
googlers281874719
pharmgkbrs281874719
gwascentralrs281874719
openSNPrs281874719
23andMers281874719
23andMe allrs281874719
SNP Nexus

SNPshotrs281874719
SNPdbers281874719
MSV3drs281874719
GWAS Ctlgrs281874719
Max Magnitude0
ClinVar
Risk rs281874719(T;T)
Alt rs281874719(T;T)
Reference Rs281874719(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911644C>T
CLNSRC ARUP COL4A5
CLNACC RCV000021551.1,


[PMID 19919694OA-icon.png] Molecular testing for adult type Alport syndrome.


[PMID 20378821OA-icon.png] Genotype-phenotype correlation in X-linked Alport syndrome.